Canonical Allele Identifier: CA1978919291

Gene: PYGM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747300G= , CM000673.2:g.64747300G=	GRCh38
NC_000011.9:g.64514772G= , CM000673.1:g.64514772G=	GRCh37
NC_000011.8:g.64271348G=	NCBI36
NG_007574.1:g.3157C= , LRG_100:g.3157C=
NG_013018.1:g.18416C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.2236C= MANE Select	ENSP00000164139.3:p.Leu746=
ENST00000164139.3:c.2236C=	ENSP00000164139.3:p.Leu746=
ENST00000377432.7:c.1972C=	ENSP00000366650.3:p.Leu658=
ENST00000483742.1:n.1589C=
NM_001164716.1:c.1972C=	NP_001158188.1:p.Leu658=
NM_005609.2:c.2236C=	NP_005600.1:p.Leu746=
NM_005609.3:c.2236C=	NP_005600.1:p.Leu746=
NM_005609.4:c.2236C= MANE Select	NP_005600.1:p.Leu746=